Published in Indian J Pediatr on January 20, 2010
Reduced Numbers and Proapoptotic Features of Mucosal-associated Invariant T Cells as a Characteristic Finding in Patients with Inflammatory Bowel Disease. Inflamm Bowel Dis (2015) 2.13
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat (2002) 1.81
Suppressor of cytokine signalling-1 gene silencing in acute myeloid leukaemia and human haematopoietic cell lines. Br J Haematol (2004) 1.70
The radiotoxicity of 131I therapy of thyroid cancer: assessment by micronucleus assay of B lymphocytes. J Nucl Med (2004) 1.68
Proposed guidelines for diagnosing chronic active Epstein-Barr virus infection. Am J Hematol (2005) 1.65
Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. Am J Hum Genet (2002) 1.64
Continuous and high-dose cytarabine combined chemotherapy in children with down syndrome and acute myeloid leukemia: Report from the Japanese children's cancer and leukemia study group (JCCLSG) AML 9805 down study. Pediatr Blood Cancer (2010) 1.57
Identification of FOXP3-negative regulatory T-like (CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Clin Immunol (2011) 1.57
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood (2010) 1.55
Hemophagocytic lymphohistiocytosis associated with uncontrolled inflammatory cytokinemia and chemokinemia was caused by systemic anaplastic large cell lymphoma: a case report and review of the literature. J Pediatr Hematol Oncol (2008) 1.52
Recurrent pregnancy loss and apolipoprotein E gene polymorphisms: a case–control study from north India. Am J Reprod Immunol (2010) 1.51
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int (2010) 1.46
SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis. Pediatr Int (2012) 1.46
Genetic analysis of patients with defects in early B-cell development. Immunol Rev (2005) 1.41
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood (2010) 1.40
Issues in counseling for Down syndrome. Indian Pediatr (2007) 1.38
Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum. Indian Pediatr (2016) 1.38
Prognostic factors for chronic active Epstein-Barr virus infection. J Infect Dis (2003) 1.36
The landscape of somatic mutations in Down syndrome-related myeloid disorders. Nat Genet (2013) 1.31
The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils. Nat Immunol (2012) 1.25
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab (2004) 1.24
Chemokine receptor expression and functional effects of chemokines on B cells: implication in the pathogenesis of rheumatoid arthritis. Arthritis Res Ther (2009) 1.19
Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J Pediatr (2009) 1.15
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. Am J Med Genet A (2012) 1.15
Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol (2011) 1.13
Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. Blood (2005) 1.13
Real-time polymerase chain reaction detection of asymptomatic Clostridium difficile colonization and rising C. difficile-associated disease rates. Infect Control Hosp Epidemiol (2014) 1.12
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood (2012) 1.11
Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles. J Allergy Clin Immunol (2012) 1.07
Membranoproliferative glomerulonephritis in a patient with X-linked agammaglobulinemia. Pediatr Nephrol (2005) 1.07
Relapsing Campylobacter coli bacteremia with reactive arthritis in a patient with X-linked agammaglobulinemia. Intern Med (2007) 1.06
Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. Br J Haematol (2008) 1.04
Hemihyperplasia syndromes. Indian J Pediatr (2006) 1.03
Toll-like receptor signaling is impaired in dendritic cells from patients with X-linked agammaglobulinemia. Clin Immunol (2008) 1.02
Epstein-Barr virus-associated T-/natural killer cell lymphoproliferative diseases. Semin Hematol (2003) 1.01
Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Indian J Med Res (2014) 1.00
Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol (2012) 1.00
Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan. Br J Haematol (2006) 0.99
Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia. Blood (2010) 0.99
Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations. Clin Immunol (2007) 0.98
Clinical significance of cloned expansion and CD5 down-regulation in Epstein-Barr Virus (EBV)-infected CD8+ T lymphocytes in EBV-associated hemophagocytic lymphohistiocytosis. J Infect Dis (2010) 0.98
Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection. Int Immunol (2002) 0.97
RAPID: Resource of Asian Primary Immunodeficiency Diseases. Nucleic Acids Res (2008) 0.97
Engineering Escherichia coli for succinate production from hemicellulose via consolidated bioprocessing. Microb Cell Fact (2012) 0.95
Therapeutic outcome of multifocal Langerhans cell histiocytosis in adults treated with the Special C regimen formulated by the Japan LCH Study Group. Int J Hematol (2012) 0.95
FCRLA is a resident endoplasmic reticulum protein that associates with intracellular Igs, IgM, IgG and IgA. Int Immunol (2010) 0.94
Role of transforming growth factor-beta in breast milk for initiation of IgA production in newborn infants. Early Hum Dev (2004) 0.94
Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia. Mol Vis (2011) 0.94
Feasibility of thalassaemia control by extended family screening in Indian context. J Health Popul Nutr (2002) 0.93
Neuroimaging in mental retardation. Indian J Pediatr (2004) 0.93
Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia. Am J Med Genet (2002) 0.93
Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Pediatr Nephrol (2009) 0.92
Ganciclovir therapy for congenital cytomegalovirus infection in six infants. Pediatr Infect Dis J (2005) 0.91
Nationwide survey of patients with primary immunodeficiency diseases in Japan. J Clin Immunol (2011) 0.91
Evans syndrome in a patient with Langerhans cell histiocytosis: possible pathogenesis of autoimmunity in LCH. Int J Hematol (2007) 0.90
IgA nephropathy associated with X-linked thrombocytopenia. Am J Kidney Dis (2004) 0.90
Quantitative assessment of PTPN11 or RAS mutations at the neonatal period and during the clinical course in patients with juvenile myelomonocytic leukaemia. Br J Haematol (2009) 0.90
Fibrodysplasia ossificans progressiva: three Indian patients with mutation in the ACVR1 gene. Indian J Pediatr (2013) 0.90
Minimal residual disease-based augmented therapy in childhood acute lymphoblastic leukemia: a report from the Japanese Childhood Cancer and Leukemia Study Group. Pediatr Blood Cancer (2010) 0.89
[A case of Williams syndrome with p47-phox-deficient chronic granulomatous disease]. Nihon Rinsho Meneki Gakkai Kaishi (2003) 0.88
Aetiologic spectrum of mental retardation & developmental delay in India. Indian J Med Res (2012) 0.88
Morphometric analysis of face in dysmorphology. Comput Methods Programs Biomed (2006) 0.88
A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly. Haematologica (2009) 0.88
Identification of an SH2D1A mutation in a hypogammaglobulinemic male patient with a diagnosis of common variable immunodeficiency. Int J Hematol (2003) 0.87
Maintenance of serum immunoglobulin G antibodies to Epstein-Barr virus (EBV) nuclear antigen 2 in healthy individuals from different age groups in a Japanese population with a high childhood incidence of asymptomatic primary EBV infection. Clin Diagn Lab Immunol (2004) 0.86
Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency. Cytokine (2013) 0.86
Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations. Blood Cells Mol Dis (2003) 0.86
Early lineage switch in an infant acute lymphoblastic leukemia. Int J Hematol (2009) 0.86
Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction. Mol Genet Metab (2010) 0.86
Spectrum of Lysosomal storage disorders at a medical genetics center in northern India. Indian Pediatr (2012) 0.86
Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. Pediatr Dermatol (2006) 0.85
Prognostic factors of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children: report of the Japan Histiocytosis Study Group. Pediatr Blood Cancer (2014) 0.85
Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China. J Clin Immunol (2008) 0.85
Epstein-Barr virus (EBV)-associated post-transplantation lymphoproliferative disorder simultaneously affecting both B and T cells after allogeneic bone marrow transplantation. Am J Hematol (2003) 0.85
Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation. Blood (2003) 0.85
Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation. J Clin Immunol (2011) 0.85
Cytokine profiles of patients with enterohemorrhagic Escherichia coli O111-induced hemolytic-uremic syndrome. Cytokine (2012) 0.85
Outcome of pediatric patients with Langerhans cell histiocytosis treated with 2 chlorodeoxyadenosine: a nationwide survey in Japan. Int J Hematol (2010) 0.84
Infliximab reduces the cytokine-mediated inflammation but does not suppress cellular infiltration of the vessel wall in refractory Kawasaki disease. Pediatr Res (2009) 0.84
Cytokine profiles in children with primary Epstein-Barr virus infection. Pediatr Blood Cancer (2013) 0.84
Nationwide survey of bisphosphonate therapy for children with reactivated Langerhans cell histiocytosis in Japan. Pediatr Blood Cancer (2011) 0.83
Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. Am J Med Genet A (2010) 0.83
Spectrum of holoprosencephaly. Indian J Pediatr (2004) 0.83
Autoimmune lymphoproliferative syndrome mimicking chronic active Epstein-Barr virus infection. Int J Hematol (2011) 0.83
RAG1 deficiency may present clinically as selective IgA deficiency. J Clin Immunol (2015) 0.83
Naturally occurring oncogenic GATA1 mutants with internal deletions in transient abnormal myelopoiesis in Down syndrome. Blood (2013) 0.83
Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report. Prenat Diagn (2002) 0.82
Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes. J Hum Genet (2011) 0.82
Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia. Int Arch Allergy Immunol (2006) 0.82
Use of Multiplex Ligation-Dependent Probe Amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation. Indian J Pediatr (2009) 0.82
Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome. Int J Hematol (2003) 0.82
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. Am J Med Genet A (2014) 0.82
Anotia and facial palsy: unusual features of cardiofacial syndrome. Indian J Pediatr (2005) 0.82
Pericentric inversion causing duplication and deletion of chromosome region 13q22 --> qter in the offspring. Am J Med Genet A (2007) 0.81
Delleman syndrome. Indian Pediatr (2006) 0.81
Myotonic dystrophy type 1 (DM1): a triplet repeat expansion disorder. Gene (2013) 0.81
Clinicoepidemiologic status of mother-to-child infections: a nationwide survey in Japan. Pediatr Infect Dis J (2013) 0.81